Human Gene MAN2C1 (uc002baf.4)
  Description: Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr15:75,648,133-75,660,968 Size: 12,836 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr15:75,648,247-75,660,924 Size: 12,678 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:75,648,133-75,660,968)mRNA (may differ from genome)Protein (1040 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MA2C1_HUMAN
DESCRIPTION: RecName: Full=Alpha-mannosidase 2C1; EC=3.2.1.24; AltName: Full=Alpha mannosidase 6A8B; AltName: Full=Alpha-D-mannoside mannohydrolase; AltName: Full=Mannosidase alpha class 2C member 1;
CATALYTIC ACTIVITY: Hydrolysis of terminal, non-reducing alpha-D- mannose residues in alpha-D-mannosides.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SIMILARITY: Belongs to the glycosyl hydrolase 38 family.
SEQUENCE CAUTION: Sequence=AAC00190.2; Type=Frameshift; Positions=1013; Sequence=AAC00568.1; Type=Frameshift; Positions=1013;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAN2C1
Diseases sorted by gene-association score: pneumatosis cystoides intestinalis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 73.15 RPKM in Thyroid
Total median expression: 1977.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.9044-0.361 Picture PostScript Text
3' UTR -43.50114-0.382 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011013 - Glyco_hydro-type_carb-bd
IPR011330 - Glyco_hydro/deAcase_b/a-brl
IPR011682 - Glyco_hydro_38_C
IPR015341 - Glyco_hydro_38_cen_dom
IPR000602 - Glyco_hydro_38_core

Pfam Domains:
PF01074 - Glycosyl hydrolases family 38 N-terminal domain
PF07748 - Glycosyl hydrolases family 38 C-terminal domain
PF09261 - Alpha mannosidase middle domain

SCOP Domains:
88688 - Families 57/38 glycoside transferase middle domain
88713 - Glycoside hydrolase/deacetylase

ModBase Predicted Comparative 3D Structure on Q9NTJ4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
 Protein SequenceProtein Sequence  Protein Sequence
 AlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004559 alpha-mannosidase activity
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0030246 carbohydrate binding
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006013 mannose metabolic process
GO:0006517 protein deglycosylation
GO:0008152 metabolic process
GO:0009313 oligosaccharide catabolic process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005773 vacuole
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BX647111 - Homo sapiens mRNA; cDNA DKFZp686K24244 (from clone DKFZp686K24244).
LF208510 - JP 2014500723-A/16013: Polycomb-Associated Non-Coding RNAs.
U37248 - Homo sapiens alpha-mannosidase (6A8) mRNA, complete cds.
AF044414 - Homo sapiens alpha mannosidase 6A8B (6a8b) mRNA, complete cds.
AL136876 - Homo sapiens mRNA; cDNA DKFZp434D175 (from clone DKFZp434D175).
BC080191 - Homo sapiens mannosidase, alpha, class 2C, member 1, mRNA (cDNA clone MGC:87979 IMAGE:6149811), complete cds.
BC050550 - Homo sapiens mannosidase, alpha, class 2C, member 1, mRNA (cDNA clone MGC:57644 IMAGE:5529534), complete cds.
BC038594 - Homo sapiens mannosidase, alpha, class 2C, member 1, mRNA (cDNA clone IMAGE:5527998), containing frame-shift errors.
HM005428 - Homo sapiens clone HTL-T-115 testicular tissue protein Li 115 mRNA, complete cds.
AK225145 - Homo sapiens mRNA for mannosidase, alpha, class 2C, member 1 variant, clone: CBL07522.
AK301170 - Homo sapiens cDNA FLJ60004 complete cds, highly similar to Alpha-mannosidase 2C1 (EC 3.2.1.24).
JD504146 - Sequence 485170 from Patent EP1572962.
JD152754 - Sequence 133778 from Patent EP1572962.
KJ891578 - Synthetic construct Homo sapiens clone ccsbBroadEn_00972 MAN2C1 gene, encodes complete protein.
AB209141 - Homo sapiens mRNA for mannosidase, alpha, class 2C, member 1 variant protein.
CR936817 - Homo sapiens mRNA; cDNA DKFZp686E23167 (from clone DKFZp686E23167).
AK311065 - Homo sapiens cDNA, FLJ18107.
LF377194 - JP 2014500723-A/184697: Polycomb-Associated Non-Coding RNAs.
AK294892 - Homo sapiens cDNA FLJ57925 complete cds, highly similar to Alpha-mannosidase 2C1 (EC 3.2.1.24).
CU690718 - Synthetic construct Homo sapiens gateway clone IMAGE:100023184 5' read MAN2C1 mRNA.
AK295265 - Homo sapiens cDNA FLJ59120 complete cds, moderately similar to Alpha-mannosidase 2C1 (EC 3.2.1.24).
MA444087 - JP 2018138019-A/16013: Polycomb-Associated Non-Coding RNAs.
MA612771 - JP 2018138019-A/184697: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00511 - Other glycan degradation

BioCarta from NCI Cancer Genome Anatomy Project
h_aMANpathway - Steps in the Glycosylation of Mammalian N-linked Oligosaccarides
h_eradPathway - ER¿associated degradation (ERAD) Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9NTJ4 (Reactome details) participates in the following event(s):

R-HSA-6799545 MAN2C1 hydrolyses GlcNAc (Man)9 to GlcNAc (Man)5
R-HSA-8853383 Lysosomal oligosaccharide catabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: MA2C1_HUMAN, MANA, MANA1, NM_006715, NP_006706, Q13358, Q9NTJ4, Q9UL64, uc002baf.3
UCSC ID: uc002baf.4
RefSeq Accession: NM_006715
Protein: Q9NTJ4 (aka MA2C1_HUMAN)
CCDS: CCDS32298.1, CCDS58390.1, CCDS58391.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006715.3
exon count: 26CDS single in 3' UTR: no RNA size: 3291
ORF size: 3123CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6375.00frame shift in genome: no % Coverage: 99.70
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.